A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

@article{Ross1998AHG,
  title={A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis},
  author={Alison Ross and Victor L. Ruiz-P{\'e}rez and Yiming Wang and Donna-Marie Hagan and Steve W. Scherer and Sally Ann Lynch and Susan Lindsay and Emily J. Custard and Elena Belloni and David I. Wilson and Roy B. Wadey and Frances R. Goodman and Karen Helene O̸rstavik and Tom Monclair and Steve Robson and William J. Reardon and John William Burn and Pete Scambler and Tom Strachan.},
  journal={Nature Genetics},
  year={1998},
  volume={20},
  pages={358-361}
}
Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450). Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies. We previously reported linkage to 7q36… CONTINUE READING
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